検索結果 - Haluk Topaloglu

The congenital muscular dystrophies 著者: Haluk Topaloğlu, Bita Poorshiri

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An unusual presentation of gastrointestinal obstruction in a three-year-old boy 著者: Ozlem Boybeyi, Arbay Ozden Ciftçi, Haluk Topaloğlu

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Benign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report 著者: Oznur Yilmaz, Ipek Alemdaroğlu, Ayşe Karaduman, Göknur Haliloğlu, Haluk Topaloğlu

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Treatment of a severe conversion disorder in a 10-year-old boy: a case study and overview 著者: Berna Ozsungur, Dilşad Foto-Özdemir, Seniz Ozusta, Meral Topçu, Haluk Topaloğlu

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Turkish version of the Egen Klassifikation scale version 2: validity and reliability in the Turkish population 著者: İpek Alemdaroğlu, Ayşe Karaduman, Gözde İyigün-Yatar, Öznur Tunca-Yılmaz, Haluk Topaloğlu

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Lamotrigine in children with refractory epilepsy 著者: Asli Celebi, Dilek Yalnmzoğlu, Güzide Turanli, Haluk Topaloğlu, Sabiha Aysun, Meral Topçu

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Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy 著者: Numan BULUT, Ayşe KARADUMAN, İpek ALEMDAROĞLU-GÜRBÜZ, Öznur YILMAZ, Haluk TOPALOĞLU, Levent ÖZÇAKAR

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Vigabatrin in pediatric patients with refractory epilepsy 著者: Güzide Turanli, Asli Celebi, Dilek Yalnizoğlu, Meral Topçu, Haluk Topaloğlu, Anlar Banu, Sabiha Aysun

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Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly 著者: Meral Topçu, Dilek Yalnizoğlu, Işil Saatçi, Göknur Haliloğlu, Haluk Topaloğlu, Nesrin Senbil, Saniye Onol, Turgay Coşkun

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Clinical, electrophysiological and neuropsychological findings of twenty-two children with mesial temporal sclerosis 著者: Fatma Müjgan Aynaci, Emire Ozdirim, Işil Saatçi, Demet Genç, Meral Topçu, Güzide Turanli, Haluk Topaloğlu, Sabiha Aysun

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Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy 著者: Mehmet Sinan Beksac, Atakan Tanacan, Duygu Aydin Hakli, Gokcen Orgul, Burcu Soyak, Burcu Balci Hayta, Pervin Dincer, Haluk Topaloğlu

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Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy 著者: Evrim Aksu-Menges, Cemil Can Eylem, Emirhan Nemutlu, Merve Gizer, Petek Korkusuz, Haluk Topaloglu, Beril Talim, Burcu Balci-Hayta

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3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures 著者: Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, Ali Dursun, Göknur Haliloğlu, Haluk Topaloğlu, Kader Karli-Oğuz, Tom J De Koning

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A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome 著者: Mustafa Kiliç, Haluk Topaloğlu, Sule Yiğit, Zuhal Akçören, Sara Seneca, Linda De Meirleir, Ayşegül Tokatli, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun

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Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies 著者: Meral Topçu, Gülşen Köse, Güzide Turanli, Haluk Topaloğlu, Banu Anlar, Müjgan Aynaci, Işil Saatçi, Alp Usubütün, Dilek Yalnizoğlu, Hüseyin Tan, Sabiha Aysun

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Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy 著者: Atakan Tanacan, M.Sinan Beksac, Hayat Yurter, Burcu Soyak, Gokcen Orgul, Duygu Aydin Hakli, Tolga Celik, Gamze Bora, Ayse Nur Cakar, Haluk Topaloglu

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L-2-hydroxyglutaric aciduria: a report of 29 patients 著者: Meral Topçu, Mehmet Kesimer, Dilek Yalnizoğlu, Güzide Turanli, Haluk Topaloğlu, Banu Anlar, Sabiha Aysun, Göknur Haliloğlu, Cengiz Yalçinkaya, Omer Faruk Aydin, Turgay Coşkun

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Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy 著者: Amy D. Harper, Haluk Topaloglu, Eugenio Mercuri, Vasiliy Suslov, Liwen Wu, Cigdem Y. Ayanoglu, Michael Tansey, Michelle L. Previtera, Robert A. Crozier, Leslie Magnus, Paula R. Clemens

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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders 著者: Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel

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Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy 著者: Canan Altay, Mustafa Seçil, Süleyman Cem Adıyaman, Başak Özgen Saydam, Tevfik Demir, Gülçin Akıncı, Ilgın Yıldırım Simsir, Erdal Eren, Ela Temeloğlu Keskin, Leyla Demir, Hüseyin Onay, Haluk Topaloğlu, Banu Sarer Yürekli, Nilüfer Özdemir Kutbay, Ramazan Gen, Barış Akıncı

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